Tần suất của các rối loạn huyết học di truyền và mối liên hệ với sốt rét và thiếu máu ở trẻ em Malawi

Kwiatkowski, 2005, How malaria has affected the human genome and what human genetics can teach us about malaria, Am J Hum Genet, 77, 171, 10.1086/432519 Fortin, 2002, Susceptibility to malaria as a complex trait: big pressure from a tiny creature, Hum Mol Genet, 11, 2469, 10.1093/hmg/11.20.2469 May, 2007, Hemoglobin variants and disease manifestations in severe falciparum malaria, JAMA, 297, 2220, 10.1001/jama.297.20.2220 Weatherall, 2008, Genetic variation and susceptibility to infection: the red cell and malaria, Br J Haematol, 141, 276, 10.1111/j.1365-2141.2008.07085.x Haldane, 1949, The rate of mutation of human genes, Hereditas, 34, 267 Allison, 1954, Protection afforded by sickle-cell trait against subtertian malareal infection, BMJ, 1, 290, 10.1136/bmj.1.4857.290 Friedman, 1978, Erythrocytic mechanism of sickle cell resistance to malaria, Proc Natl Acad Sci USA, 75, 1994, 10.1073/pnas.75.4.1994 Williams, 2011, Sickle cell disease and malaria morbidity: a tale with two tails, Trends Parasitol, 27, 315, 10.1016/j.pt.2011.02.004 Gong, 2012, Evidence for both innate and acquired mechanisms of protection from Plasmodium falciparum in children with sickle cell trait, Blood, 119, 3808, 10.1182/blood-2011-08-371062 Bunn, 2013, The triumph of good over evil: protection by the sickle gene against malaria, Blood, 121, 20, 10.1182/blood-2012-08-449397 Modiano, 2001, Haemoglobin C protects against clinical Plasmodium falciparum malaria, Nature, 414, 305, 10.1038/35104556 Mockenhaupt, 2004, Hemoglobin C and resistance to severe malaria in Ghanaian children, J Infect Dis, 190, 1006, 10.1086/422847 Nagel, 1981, Impairment of the growth of Plasmodium falciparum in HbEE erythrocytes, J Clin Invest, 68, 303, 10.1172/JCI110248 Vernes, 1986, Decreased growth of Plasmodium falciparum in red cells containing haemoglobin E, a role for oxidative stress, and a sero-epidemiological correlation, Trans R Soc Trop Med Hyg, 80, 642, 10.1016/0035-9203(86)90163-X Ohashi, 2004, Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection, Am J Hum Genet, 74, 1198, 10.1086/421330 Allen, 1997, alpha+-Thalassemia protects children against disease caused by other infections as well as malaria, Proc Natl Acad Sci USA, 94, 14736, 10.1073/pnas.94.26.14736 Mockenhaupt, 2004, Alpha(+)-thalassemia protects African children from severe malaria, Blood, 104, 2003, 10.1182/blood-2003-11-4090 Williams, 2005, Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya, Blood, 106, 368, 10.1182/blood-2005-01-0313 Willcox, 1983, Falciparum malaria and beta-thalassaemia trait in northern Liberia, Ann Trop Med Parasitol, 77, 335, 10.1080/00034983.1983.11811722 Roth, 1988, Malaria in beta-thalassemic mice and the effects of the transgenic human beta-globin gene and splenectomy, J Lab Clin Med, 111, 35 Pattanapanyasat, 1999, Impairment of Plasmodium falciparum growth in thalassemic red blood cells: further evidence by using biotin labeling and flow cytometry, Blood, 93, 3116, 10.1182/blood.V93.9.3116 Ayi, 2004, Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait, Blood, 104, 3364, 10.1182/blood-2003-11-3820 Cappadoro, 1998, Early phagocytosis of glucose-6-phosphate dehydrogenase (G6PD)-deficient erythrocytes parasitized by Plasmodium falciparum may explain malaria protection in G6PD deficiency, Blood, 92, 2527, 10.1182/blood.V92.7.2527 Luzzatto, 2015, G6PD deficiency: a polymorphism balanced by heterozygote advantage against malaria, Lancet Haematol, 2, e400, 10.1016/S2352-3026(15)00191-X Uyoga, 2015, Glucose-6-phosphate dehydrogenase deficiency and the risk of malaria and other diseases in children in Kenya: a case-control and a cohort study, Lancet Haematol, 2, e437, 10.1016/S2352-3026(15)00152-0 Grosse, 2011, Sickle cell disease in Africa: a neglected cause of early childhood mortality, Am J Prev Med, 41, S398, 10.1016/j.amepre.2011.09.013 Cappellini, 2008, Glucose-6-phosphate dehydrogenase deficiency, Lancet, 371, 64, 10.1016/S0140-6736(08)60073-2 Williams, 2012, World distribution, population genetics, and health burden of the hemoglobinopathies, Cold Spring Harb Perspect Med, 2, a011692, 10.1101/cshperspect.a011692 Weatherall, 2010, The inherited diseases of hemoglobin are an emerging global health burden, Blood, 115, 4331, 10.1182/blood-2010-01-251348 Piel, 2010, Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis, Nat Commun, 1, 104, 10.1038/ncomms1104 Piel, 2013, The distribution of haemoglobin C and its prevalence in newborns in Africa, Sci Rep, 3, 1671, 10.1038/srep01671 Howes, 2013, Spatial distribution of G6PD deficiency variants across malaria-endemic regions, Malar J, 12, 418, 10.1186/1475-2875-12-418 Brabin, 2001, An analysis of anemia and child mortality, J Nutr, 131, 636S, 10.1093/jn/131.2.636S Kassebaum, 2014, A systematic analysis of global anemia burden from 1990 to 2010, Blood, 123, 615, 10.1182/blood-2013-06-508325 Al-Shehri, 2016, An extensive burden of giardiasis associated with intestinal schistosomiasis and anaemia in school children on the shoreline of Lake Albert, Uganda, Trans R Soc Trop Med Hyg, 110, 597, 10.1093/trstmh/trw072 Moraleda, 2017, Anaemia in hospitalised preschool children from a rural area in Mozambique: a case control study in search for aetiological agents, BMC Pediatr, 17, 63, 10.1186/s12887-017-0816-x Calis, 2016, Severe anemia in Malawian children, Malawi Med J, 28, 99 Jonker, 2012, Real-time PCR demonstrates Ancylostoma duodenale is a key factor in the etiology of severe anemia and iron deficiency in Malawian pre-school children, PLoS Negl Trop Dis, 6, e1555, 10.1371/journal.pntd.0001555 Hotez, 2008, Tropical anemia: one of Africa’s great killers and a rationale for linking malaria and neglected tropical disease control to achieve a common goal, PLoS Negl Trop Dis, 2, e270, 10.1371/journal.pntd.0000270 Stoltzfus, 2003, Iron deficiency: global prevalence and consequences, Food Nutr Bull, 24, S99, 10.1177/15648265030244S206 Schellenberg, 2003, The silent burden of anaemia in Tanzanian children: a community-based study, Bull World Health Organ, 81, 581 Newton, 1997, Severe anaemia in children living in a malaria endemic area of Kenya, Trop Med Int Health, 2, 165, 10.1046/j.1365-3156.1997.d01-238.x Suchdev, 2014, The burden and consequences of inherited blood disorders among young children in western Kenya, Matern Child Nutr, 10, 135, 10.1111/j.1740-8709.2012.00454.x Calis, 2008, Severe anemia in Malawian children, N Engl J Med, 358, 888, 10.1056/NEJMoa072727 Phiri, 2008, Long term outcome of severe anaemia in Malawian children, PLoS One, 3, e2903, 10.1371/journal.pone.0002903 National Statistical Office, Community Health Services Unit of the Ministry of Health, Centers for Disease Control and Prevention. Malawi Micronutrient Survey Key Indicators Report 2015-16. Available at: https://dhsprogram.com/pubs/pdf/FR319/FR319m.pdf. Accessed 1 October 2018. Erhardt, 2004, Combined measurement of ferritin, soluble transferrin receptor, retinol binding protein, and C-reactive protein by an inexpensive, sensitive, and simple sandwich enzyme-linked immunosorbent assay technique, J Nutr, 134, 3127, 10.1093/jn/134.11.3127 Grimholt, 2014, Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR, BMC Hematol, 14, 4, 10.1186/2052-1839-14-4 Heimlich, 2016, Establishing sickle cell diagnostics and characterizing a paediatric sickle cell disease cohort in Malawi, Br J Haematol, 174, 325, 10.1111/bjh.13769 Namaste, 2017, Adjusting ferritin concentrations for inflammation: Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project, Am J Clin Nutr, 106, 359S, 10.3945/ajcn.116.141762 Diggle Giorgi, 2017, Prevmap: an R package for prevalence mapping, J Statistical Software, 78, 1, 10.18637/jss.v078.i08 UNICEF. 2013 statistics, Malawi. Available at: https://www.unicef.org/infobycountry/malawi_statistics.html. Accessed 1 October 2018. Kanyuka, 2016, Malawi and Millennium Development Goal 4: a countdown to 2015 country case study, Lancet Glob Health, 4, e201, 10.1016/S2214-109X(15)00294-6 Luzzatto, 2014, G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications, Br J Haematol, 164, 469, 10.1111/bjh.12665 Beutler, 2007, Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development, Am J Trop Med Hyg, 77, 779, 10.4269/ajtmh.2007.77.779 Baird, 2015, Point-of-care G6PD diagnostics for Plasmodium vivax malaria is a clinical and public health urgency, BMC Med, 13, 296, 10.1186/s12916-015-0531-0 Badejoko, 2014, Early neonatal bilirubin, hematocrit, and glucose-6-phosphate dehydrogenase status, Pediatrics, 134, e1082, 10.1542/peds.2014-0654 World Health Organization. Point-of-care G6PD testing to support safe use of primaquine for the treatment of vivax malaria. WHO: Malaria Policy Advisory Committee Meeting; March 2015, Geneva, Switzerland. Available at: www.who.int/malaria/mpac/mpac-march2015-erg-g6pd.pdf. Accessed 1 October 2018. Kaplan, 2009, The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective, J Perinatol, 29, S46, 10.1038/jp.2008.216 Satyagraha, 2016, Assessment of point-of-care diagnostics for G6PD deficiency in malaria endemic rural Eastern Indonesia, PLoS Negl Trop Dis, 10, e0004457, 10.1371/journal.pntd.0004457 Bhutani, 2015, Point-of-care quantitative measure of glucose-6-phosphate dehydrogenase enzyme deficiency, Pediatrics, 136, e1268, 10.1542/peds.2015-2122 Williams, 2005, Negative epistasis between the malaria-protective effects of α+-thalassemia and the sickle cell trait, Nat Genet, 37, 1253, 10.1038/ng1660 Ndeezi, 2016, Burden of sickle cell trait and disease in the Uganda Sickle Surveillance Study (US3): a cross-sectional study, Lancet Glob Health, 4, e195, 10.1016/S2214-109X(15)00288-0